Table 1. Frequencies of cysteine-altering NOTCH3 mutations in different populations.
| Source | Regions or populations | Number of subjects (mutation carriers/number of screened individuals) | Frequency of mutation carrier* | |
|---|---|---|---|---|
| All cysteine-altering NOTCH3 mutations | Most frequent variant | |||
| gnomAD (Genome Aggregation Database)14 | South Asian | NA | 0.01178 | p.Arg1231Cys (0.0054) |
| East Asian | NA | 0.01117 | p.Arg544Cys (0.0037) | |
| Ashkenazi Jewish | NA | 0.00067 | p.Arg951Cys (0.00017) | |
| African/African-American | NA | 0.00087 | p.Arg717Cys (0.00013) | |
| Non-Finnish European | NA | 0.002 | p.Arg1231Cys (0.00032) | |
| Finnish European | NA | 0.00117 | p.Arg767Cys (0.0004) | |
| Latino/admixed American | NA | 0.00285 | p.Arg1231Cys (0.00066) | |
| UK Biobank36 | UK | 443/200,632 | 0.0022 | p.Arg1231Cys (0.0006) |
| The MyCode Initiative37 | Pennsylvania, USA | 131/92,456 | 0.0014 | p.Arg1231Cys (0.00091) |
| KRGDB (Korean Reference Genome Database)39 | South Korea | 2/1,722 | 0.0012 | p.Arg544Cys (0.0012) |
| Korea1K (The Korean Genome Project)39 | South Korea | 4/1,094 | 0.0044 | p.Arg544Cys (0.0044) |
| Jeju Island39 | South Korea | 10/1,000 | 0.01 | p.Arg544Cys (0.009) |
| Taiwan38 | Taiwan | 61/7,038 | 0.0087 | p.Arg544Cys (0.0085) |
*Frequency of mutation carriers=number of subjects carrying NOTCH3 cysteine-altering mutations/overall number of screened individuals.
NA, not available.